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1 August 2010 Association of D16S515 Microsatellite with Specific Language Impairment on Robinson Crusoe Island, an Isolated Chilean Population: A Possible Key to Understanding Language Development
Pia Villanueva, Lilian Jara, Hernan Palomino
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Abstract

Specific language impairment (SLI) is a developmental language disorder that occurs for no known reason. The disorder affects 2–8% of children. Some scientific evidence suggests that genetic factors are implicated in the etiology of SLI. The disorder is genetically complex. Two novel loci, SLI1 on chromosome 16q24 (MIM 606711) and SLI2 on chromosome 19q13 (MIM 606712), have been found to be highly correlated with SLI. Four genes have been identified as susceptibility genes. SLI occurs at an unusually elevated incidence (35%) among the population of Robinson Crusoe Island (Chile), which also has a high consanguinity rate. This finding supports the influence of genetic mechanisms in the transmission of SLI based on a founder effect. To investigate further the genetic involvement in this population, we collected blood samples from 115 islanders from 13 families with a language-impaired proband and from 18 families with a normal-language proband. The analysis of micro satellite marker D16S515, located in locus SLI1, demonstrated that the 230-bp allele was correlated with SLI and that the 232-bp allele was correlated with normal language development. The domain containing the D16S515 marker, therefore, may play a role in language development.

Copyright © 2010 Wayne State University Press, Detroit, Michigan 48201-1309
Pia Villanueva, Lilian Jara, and Hernan Palomino "Association of D16S515 Microsatellite with Specific Language Impairment on Robinson Crusoe Island, an Isolated Chilean Population: A Possible Key to Understanding Language Development," Human Biology 82(4), 395-408, (1 August 2010). https://doi.org/10.3378/027.082.0404
Received: 15 April 2010; Accepted: 1 June 2010; Published: 1 August 2010
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KEYWORDS
CHROMOSOME 16
CONSANGUINITY
D16S515
language development
LANGUAGE DISORDERS
population genetics
ROBINSON CRUSOE ISLAND
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